Monday, April 30, 2007

Canavan Disease

A rare genetic, degenerative disease, turning the brain into a spongy mush, describes Canavan disease. CD is named after Myrtelle Canavan, the researcher who in 1931 first described the condition. It afflicts infants, and death is common before the age of 4. Those that live a few years longer are prone to seizures and may suffer from blindness and paralysis. CD is most common among Ashkenazi Jews from eastern Poland, western Russia, Lithuania, and Saudi Arabians.

Symptoms such as hypotonia(abnormal muscle tone), macrocephaly (very large head), and head lag in an infant after the age of three to five months should raise a red flag to parents.

There is no real treatment, other than keeping the child well fed, hydrated, comfortable and maintaining an open airway.